Nathaniel Alzofon, Katrina Koc, Kristin Panwell, Nikita Pozdeyev, Carrie B Marshall, Maria Albuja-Cruz, Christopher D Raeburn, Katherine L Nathanson, Debbie L Cohen, Margaret E Wierman, Katja Kiseljak-Vassiliades, Lauren Fishbein
Metastatic disease in pheochromocytomas and paragangliomas (PCC/PGL) is not well-understood. The Cancer Genome Atlas discovered recurrent MAML3 fusion genes in a subset of tumors that lacked known germline or somatic driver mutations and were associated with aggressive disease. Here, we aimed to investigate the role of MAML3 in tumorigenesis. Human PCC/PGLs were used for immunohistochemistry and genetic analysis. Three neuroendocrine tumor cell lines, SK-N-SH, QGP-1 and BON-1, were transiently transfected with MAML3 (FL) or exon 1 deleted MAML3 (dEx1; mimicking the fusion), and biologic effects of overexpression were examined in vitro...
May 13, 2021: Molecular Cancer Research: MCR